Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA303097

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189845

ClinVar RCV Id: RCV000180799

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Pro1657Arg	CA303095 NM_006920.6:c.4970C>G